ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2207+16G>A

gnomAD frequency: 0.00139  dbSNP: rs200956009
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606866 SCV000717303 likely benign not specified 2018-03-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002063055 SCV002325746 benign Adams-Oliver syndrome 5 2023-12-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002063055 SCV002554971 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270746 SCV002554972 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000606866 SCV004039001 benign not specified 2023-08-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424174 SCV004162048 benign not provided 2022-08-01 criteria provided, single submitter clinical testing NOTCH1: BS1, BS2

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